Canonical Allele Identifier: CA982865847
Gene:

Linked Data

gnomAD v3: 17-30237248-GTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGT-G
gnomAD v4: 17-30237248-GTGCAGGGGGATGCTGGAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237258_30237431del , CM000679.2:g.30237258_30237431del GRCh38
NC_000017.10:g.28564276_28564449del , CM000679.1:g.28564276_28564449del GRCh37
NC_000017.9:g.25588402_25588575del NCBI36
NG_011747.2:g.3515_3688del

Transcript Alleles

HGVS Amino-acid change
XR_934654.1:n.165+188_166-211del
XR_001752824.1:n.280+188_281-211del
Search 100 bp 5'
Search 100 bp 3'